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In perfect health, the baby doctors said would be born deaf and blind ...and live only a few hours
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23 February 2008
Little Brandon Kramer was diagnosed with rhomboencephalosynapsis – a condition so rare it affects fewer than one in a million people worldwide – while he was still in the womb.
Doctors warned his mother and father that Brandon would be born deaf and blind and would probably survive only for a couple of hours.
It is believed to be the first time in Britain that the condition has been diagnosed during pregnancy – and Becky Weatherall and her partner Kriss Kramer were offered a termination up to just weeks before the birth.
But the couple defied doctors' advice and their son was born healthy on October 1 last year.
Now Brandon is teething and attempting to talk, and Kriss, 24, from Pembroke Dock, South Wales, said: "The fact that he is here now, alive and kicking, truly is a miracle.
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A Miracle: Becky and Kriss with Brandon - they were 'expecting a funeral but now look forward to a christening'
"The doctors say that he has defied all the odds but it's really more than that because he wasn't given any odds at all.
"He was written off completely and we believed he was 100 per cent certain to be handicapped."
Becky, 23, whose father Paul Weatherall is Mayor of Pembroke Dock, said: "I feel incredibly guilty thinking that I could have killed him – and then I find myself wondering how many other babies are killed who would have turned out to be completely healthy.
"Just two weeks before he was born scans showed that his head was so swollen it was off the scale for normal babies but when he had an MRI scan on Christmas Eve it was confirmed he was completely healthy.
"We had prepared to spend Christmas without him – we thought we'd be planning a funeral. Instead, it was the best Christmas present ever and now we're having a christening."
Doctors at the Fetal Medicine Unit at the University Hospital of Wales in Cardiff first suspected Brandon had Down's Syndrome.
But finally they diagnosed rhomboencephalosynapsis – a condition in which the brain fuses together rather than being in two halves.
Doctors also diagnosed Brandon with a swollen head and hydrocephalus – water on the brain – which can cause learning difficulties and behavioural problems. They said further tests every two weeks until just before the birth had shown his condition worsening.
Medical notes written by paediatric neurologist Dr Cathy White from the University Hospital of Wales after an examination in August, 2007 read:
"Rhomboencephalosynapsis is an extraordinarily rare congenital abnormality and this, therefore, makes it very difficult to predict the long-term outcome for this baby.
"I have explained to them [the parents] that children with this condition are likely to be profoundly handicapped with severe physical and learning disabilities and will be totally dependent for the whole of their life.
"They often need the level of care given to babies for the whole of their lives."
But Brandon was born naturally in October and, despite being whisked to intensive care by a team of specialists, was quickly given the all-clear.
An urgent review into the case has been ordered by hospital chiefs because it is unclear if Brandon had the condition and recovered from it – or if the data was misinterpreted by hospital staff.
The couple do not want to claim compensation and just want to highlight their case as a warning to other parents.
Becky said: "Perhaps doctors shouldn't put so much confidence in scans.
"One of the older doctors we spoke to said a scan is like a fuzzy image of a snowstorm – it cannot be relied upon – and he turned out to be right."
A spokesman for the British Paediatric Neurology Association said: 'MRI scans for babies have been a very recent development.
"But the problem is that it's hard to go from what the brain looks like to how it's going to work.
"Just because you have an abnormality in a scan doesn't mean your baby will turn out abnormally."
He said he had seen only about three or four cases of rhomboencephalosynapsis in the past ten years – and that this may be the first case in Britain of it being diagnosed in the womb.
Jane Herve, Assistant Clinical Director and Head Of Midwifery And Gynaecology at Cardiff and Vale NHS Trust, said: "Due to confidentiality reasons, we cannot discuss the details of individual cases.
"Although every care and precaution is taken to ensure the most accurate results, ultrasound is not 100 per cent accurate.
"If any reading or results are missed, be it negative or positive, clinicians will review the case including the scan photographs."
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